All samples for which no pathogenic mutation was found were analyzed by MLPA for large deletions or duplications.

Results: Three

distinct pathogenic mutations c.83_84delTG, c.181T>G, c.798_799delTT and two large rearrangements involving deletion of exon 2 and exon 8 respectively, were detected in BRCA1 gene. Moreover 17 unclassified variants and polymorphisms were detected in BRCA1 gene (6 described for NCT-501 molecular weight the first time). Two pathogenic mutations, c.1310_1313delAAGA and c.5722_5723delCT and 40 unclassified variants and polymorphisms (14 never described before) were identified in BRCA2 gene.

Conclusions: For the first time, we used HRM and MLPA to identify BRCA1 and BRCA2 mutations in Algerian patients with a personal and family history suggestive of genetic predisposition to breast cancer. The implications of these new findings Ricolinostat datasheet in regard to genetic testing and counseling are substantial for the Algerian

population.”
“Background: Maternal death auditing is widely used to ascertain in-depth information on the clinical, social, cultural, and other contributing factors that result in a maternal death. As the 2015 deadline for Millennium Development Goal 5 of reducing maternal mortality by three quarters between 1990 and 2015 draws near, this information becomes even more critical for informing intensified maternal mortality reduction strategies. Studies using maternal death audit methodologies are widely available, but few discuss the challenges in their implementation. The purpose of this paper is to discuss the methodological issues that arose while conducting maternal death review research in Lilongwe, Malawi.

Methods: Critical reflections were based on a recently conducted maternal mortality study in Lilongwe, Malawi in which a facility-based maternal death review approach was used. The five-step maternal mortality surveillance cycle provided the framework for discussion. The steps included: 1)

identification Ulixertinib manufacturer of cases, 2) data collection, 3) data analysis, 4) recommendations, and 5) evaluation.

Results: Challenges experienced were related to the first three steps of the surveillance cycle. They included: 1) identification of cases: conflicting maternal death numbers, and missing medical charts, 2) data collection: poor record keeping, poor quality of documentation, difficulties in identifying and locating appropriate healthcare workers for interviews, the potential introduction of bias through the use of an interpreter, and difficulties with locating family and community members and recall bias; and 3) data analysis: determining the causes of death and clinical diagnoses.

Conclusion: Conducting facility-based maternal death reviews for the purpose of research has several challenges.